Associated Papers
The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.
Thaweesapphithak S et al.
Journal of Translational Medicine, 2024
39627759 (PubMed )
Supplement: 12967_2024_5904_MOESM1_ESM.xlsx › Supplement_table_1.
Two Novel C-Terminus RUNX2 Mutations in Two Cleidocranial Dysplasia (CCD) Patients Impairing p53 Expression.
Dalle Carbonare L et al.
International Journal of Molecular Sciences, 2021
Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.
Berkay EG et al.
American Journal of Medical Genetics. Part A, 2021
Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.
Ma D et al.
Medicine, 2018
30095610 (PubMed )
Supplement: medi-97-e11328-s001.doc
Novel Mutation of Cleidocranial Dysplasia-related Frameshift Runt-related Transcription Factor 2 in a Sporadic Chinese Case.
Qin XY et al.
Chinese Medical Journal, 2017
Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.
Jaruga A et al.
Clinical Genetics, 2016
Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation.
Lee C et al.
Maxillofacial Plastic and Reconstructive Surgery, 2015
[Clinical and image features, and identification of pathogenic gene mutation of two cleidocranial dysplasia families].
Wang GX et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.
Ott CE et al.
Human Mutation, 2010
A novel RUNX2 mutation (T420I) in Chinese patients with cleidocranial dysplasia.
Wang GX et al.
Genetics and Molecular Research : Gmr, 2010
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